
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00001956 |
- |
- |
- |
M |
? |
Germany |
- |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly; hexadactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001957 |
- |
- |
- |
F |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001958 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
APOE, DHCR7 |
APOE, BRCA1, BRCA2, DHCR7 |
19 |
1 |
Division of Human Genetics, Innsbruck |
00001959 |
- |
- |
- |
F |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001960 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly; hexadactyly; microcephaly; agenesis of corpus callosum |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001961 |
- |
- |
- |
F |
? |
Germany;Turkey |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001962 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly |
DHCR7 |
DHCR7, EYS |
3 |
1 |
Division of Human Genetics, Innsbruck |
00001963 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001964 |
- |
- |
- |
F |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; hexadactyly; microcephaly |
APOE, DHCR7 |
APOE, BRCA1, BRCA2, DHCR7 |
18 |
1 |
Division of Human Genetics, Innsbruck |
00001965 |
- |
- |
- |
F |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly; Hexadactyly; hypoplasia of the corpus callosum |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001966 |
- |
- |
- |
F |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
APOE, DHCR7 |
APOE, BRCA1, BRCA2, DHCR7 |
24 |
1 |
Division of Human Genetics, Innsbruck |
00001967 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001968 |
- |
- |
- |
F |
? |
- |
- |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001969 |
- |
- |
- |
M |
? |
Germany;Poland |
white |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001970 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001971 |
- |
- |
- |
M |
? |
Germany;Poland |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; postaxial polydactyly, 2-3 toe syndactyly, hypospadia, decreased head circumference |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00001972 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001973 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001974 |
- |
- |
- |
M |
? |
? (unknown);Germany |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001975 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal; ascertainment clinical presentation; postaxial polydactyly of left hand and both feet, 2-4 toe syndactyly, hypospadia, multiple heart defects, lung hypoplasia, hypertelorism, facial dysmorphisms, |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001976 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly; hexadactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001977 |
- |
- |
- |
M |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; severe |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001978 |
- |
- |
since age of 2 years diet at cholesterol; brother is A23 |
F |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
ascertainment family analysis; facial similarities to her brother, Head circumfrence < 1 SD, hyperactive, aggressive, cleft soft palate, pyloric stenosis |
DHCR7 |
DHCR7 |
1 |
1 |
Division of Human Genetics, Innsbruck |
00001979 |
- |
PubMed: Nezarati 2002 |
brother of Patient#0000027 |
M |
? |
Lebanon |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; microcephaly, developmental delay,minor facial anomalies, minimal 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001980 |
- |
PubMed: Nezarati 2002 |
sister of Patient#0000026 |
F |
? |
Lebanon |
white |
- |
- |
- |
- |
SLOS |
ascertainment family analysis; failure to thrive, mild splenomegaly, moderate global cognitive delay, chronic severe behavioral problems, attention deficit disorder, 2, 3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001981 |
- |
- |
- |
F |
? |
Austria |
- |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001982 |
- |
- |
brother of A29 |
M |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly, polydactyly, heart anomaly, severe hypospadia, mikrocephalie |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001983 |
- |
- |
sister of A28 |
F |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
ascertainment family analysis; 2-3 toe syndactyly; microcepahly, |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001984 |
- |
- |
- |
F |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly, |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001985 |
- |
- |
- |
F |
? |
Switzerland;Poland |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly; microcephaly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001986 |
- |
- |
- |
F |
? |
Switzerland;Poland |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001987 |
- |
- |
fetus for retrospective diagnostic; gender is not sure |
? |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001988 |
- |
PubMed: Ko 2010 |
Patient from Ko et al. 2010 |
M |
? |
Korea, South (Republic) |
Asian |
- |
- |
- |
- |
SLOS |
neonatal cholestasis, microcephaly, micrognathia, a small nose with anteverted nares, ambiguous genitalia, cleft palate, simian line, (bilateral) 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001989 |
- |
- |
- |
F |
? |
Austria;Poland |
white |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001990 |
- |
- |
- |
? |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001991 |
- |
- |
- |
F |
? |
Moldova;Germany |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001992 |
- |
- |
- |
F |
? |
Ireland |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
1 |
1 |
Division of Human Genetics, Innsbruck |
00001993 |
- |
- |
- |
M |
? |
Ireland |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001994 |
- |
- |
- |
F |
? |
Ireland |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; seizures, 2-3 toe syndactyly, simple cystic kidney disease |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001995 |
- |
- |
- |
M |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00001996 |
- |
- |
- |
M |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; cleft palate, polydactyly, 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001997 |
- |
- |
- |
M |
? |
Germany |
white |
00y01m15d |
- |
- |
- |
SLOS |
ascertainment clinical presentation; microcephaly, 2-3 toe syndactyly, multiple facial dysmorphisms, cataracts, hexadactyly, cleft hard palate, progressive liver disease, ambigious genitalia |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001998 |
- |
- |
- |
M |
? |
United Kingdom (Great Britain);Cyprus |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00001999 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002000 |
- |
- |
- |
? |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002001 |
- |
- |
- |
F |
? |
Turkey |
white |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly, blond hair |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002002 |
- |
- |
- |
F |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002003 |
- |
- |
- |
F |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002004 |
- |
- |
Fetus for respective diagnostic gender is not sure |
? |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002005 |
- |
: |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002006 |
- |
- |
Nijmegen Therapy study, diet with cholesterol and simvastatin |
M |
? |
Austria |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; head circumference < 3 perc., seizures, 2-3 toe syndactyly, hypoplasia of lung, simple hypospadia |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002007 |
- |
- |
- |
F |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, 2-3 toe syndactyly, pyloric stenosis |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002008 |
- |
- |
since 14 years cholesterol supplementation |
F |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, cataracts, 2-3 toe syndactyly, clubfoot, pyloric stenosis |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002009 |
- |
- |
since 13 years cholesterol supplementation |
M |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; head circumference < -3 SD, ptosis, anteverted nares, 2-3 toe syndactyly, clubfoot, pyloric stenosis |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002010 |
- |
- |
Fetus for retrospective diagnostic gender is not sure |
? |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002011 |
- |
- |
- |
F |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
no 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002012 |
- |
- |
Fetus for retrospective diagnistic gender is not sure |
? |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002013 |
- |
- |
- |
F |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002014 |
- |
- |
- |
F |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002015 |
- |
- |
Fetus for retrospective diagnostic gender is not sure |
? |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002016 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002017 |
- |
- |
- |
? |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal; 2-3 toe syndactyly, failure to thrive |
DHCR7 |
DHCR7 |
1 |
1 |
Division of Human Genetics, Innsbruck |
00002018 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
1 |
1 |
Division of Human Genetics, Innsbruck |
00002019 |
- |
- |
diet with cholesterol |
M |
? |
Finland;Morocco |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; head circumference < 2 perc., 2-3 toe syndactyly, high arched palate with posterior cleft, micrognathia, wide nasal root, simple hypospadia |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002020 |
- |
- |
see paper S. Kalb et al 2010 |
M |
? |
Turkey |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002021 |
- |
- |
- |
M |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002022 |
- |
- |
- |
M |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002023 |
- |
- |
- |
F |
? |
Hungary |
white |
- |
- |
- |
- |
SLOS |
died 2006 |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002024 |
- |
- |
- |
F |
? |
Switzerland |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002025 |
- |
- |
fetus died |
F |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002026 |
- |
- |
- |
F |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002027 |
- |
- |
- |
F |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; seizures, bifid uvula, minimal 2-3 toe syndactyly, pyloric stenosis |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002028 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; corpus callosum hypoplasia, polydactyly |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002029 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002030 |
- |
- |
- |
M |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; seizures, head circumference <3 perc., cleft hard palate, clubfoot, 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002031 |
- |
- |
- |
F |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002032 |
- |
- |
- |
F |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002033 |
- |
- |
- |
M |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; no 2-3 toe syndactyly |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002034 |
- |
- |
- |
M |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002035 |
- |
- |
- |
F |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002036 |
- |
- |
- |
M |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002037 |
- |
- |
- |
M |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002038 |
- |
- |
fetus for retrospective diagnostic gender is not sure |
? |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002039 |
- |
- |
- |
M |
? |
United States |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; 2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002040 |
- |
- |
- |
M |
? |
United States |
white |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002041 |
- |
- |
- |
M |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
ascertainment unknown |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002042 |
- |
- |
- |
F |
? |
Germany |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002043 |
- |
- |
- |
M |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002044 |
- |
- |
- |
F |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002045 |
- |
- |
- |
F |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
2-3 toe syndactyly, seizures, hypoplasia of the corpus callosum |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002046 |
- |
- |
- |
M |
? |
Italy |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; polydactyly, 2-3 toe syndactyly, simple hypospadia |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002047 |
- |
- |
brother of A194 |
M |
? |
Poland |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
APOE, DHCR7 |
APOE, DHCR7 |
3 |
1 |
Division of Human Genetics, Innsbruck |
00002048 |
- |
- |
- |
F |
? |
- |
- |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002049 |
- |
- |
- |
M |
? |
Spain |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; head circumference < -3 SD, severe hypotonia, anteverted nares, coloboma, 2-3 toe syndactyly, polydactyly, reflux vesicoureteral, simple hypospadia |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002050 |
- |
- |
- |
M |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; mild |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002051 |
- |
- |
- |
? |
? |
United States |
white;Jewish-Ashkenazi |
- |
- |
- |
- |
SLOS |
- |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002052 |
- |
PubMed: Witsch-Baumgartner 2000 |
- |
? |
? |
United States |
white |
- |
- |
- |
- |
SLOS |
diagnosis fetal; ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002053 |
- |
PubMed: Witsch-Baumgartner 2000 |
- |
? |
? |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002054 |
- |
PubMed: Witsch-Baumgartner 2000 |
- |
? |
? |
- |
- |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; mild |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |
00002055 |
- |
PubMed: Witsch-Baumgartner 2000 |
- |
? |
? |
- |
- |
- |
- |
- |
- |
SLOS |
ascertainment clinical presentation; mild |
DHCR7 |
DHCR7 |
2 |
1 |
Division of Human Genetics, Innsbruck |